A deficiency in MYD88 can result in impaired host defenses with recurrent pyogenic bacterial infections that can be life-threatening.
Chromosome: 3p22.2
Gene: MYD88 (myeloid differentiation factor 88)
Function: signal transducer in the interleukin-1 and Toll-like receptor signaling pathways
Inheritance: autosomal recessive
Onset: as a neonate or infant
Clinical Features:
(1) recurrent bacterial infections that may be noninvasive or invasive, primarily of the skin or respiratory tract, with invasive infections causing sepsis
(2) systemic signs of inflammation are weak or delayed
(3) normal host response to fungi, parasites, viruses and many bacteria
Bacterial pathogens to which the patient may be susceptible:
(1) Streptococcus pneumoniae
(2) Pseudomonas aeruginosa
(3) Staphylococcus aureus
(4) Hemophilus influenzae
(5) Neisseria meningitidis
Aggressive management during childhood can be effective:
(1) early, empiric antibiotic therapy
(2) vaccination
(3) IgG infusion
